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PTEN-Related Disorders: PTEN Sequencing

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PTEN-Related Disorders: PTEN Sequencing

Key Information

Lab:

Molecular

TAT:

6 weeks

Price:

$1,200

CPT Code(s):

81321

Test Code:

DPTS

Order Form

PTEN-Related Disorders: PTEN Sequencing

PTEN sequencing is a molecular test used to identify variants in the gene associated with PTEN-related disordersm including autism and macrocephaly, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome. This test can also confirm a diagnosis and identify disease-causing variants within a family to facilitate carrier screening.

PTEN

Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Syndromic autism

Clinical Information

PTEN variants are associated with autism/macrocephaly and PTEN-related hamartoma tumor syndromes.

Technical Information

  • This test is performed by Sanger sequencing.
  • Genomic DNA is used to amplify all coding exons of the PTEN gene by standard polymerase chain reaction. Each amplified product is sequenced bi-directionally, when possible, using the Sanger dideoxy method.

Specimen Requirements

  • The preferred sample type is 3-4 ml of peripheral blood collected in an EDTA (purple top) tube. Dried blood spots, extracted DNA, and saliva are also accepted for this test. Blood and saliva kits are available by request.
  • Approximately 75 µL of blood should be applied to each of the five circles on a filter paper dried blood spot card. Allow blood to dry for at least 4 hours before shipping.
  • Send approximately 5 µg of extracted DNA at a requested concentration of 90-130 ng/µl.
  • Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

  • The blood specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
  • DBS cards should be shipped at room temperature.
  • Extracted DNA should be sent at room temperature via overnight delivery.
  • Saliva is stable at room temperature and can be delivered via overnight or ground shipping.

Associated Tests

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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